Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.

@article{Marchand2001FrequencyOC,
  title={Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.},
  author={Eric Marchand and Christine Verellen-Dumoulin and Michel Mairesse and Luc Delaunois and Pierre Brancaleone and Jean-François Rahier and Olivier Vandenplas},
  journal={Chest},
  year={2001},
  volume={119 3},
  pages={
          762-7
        }
}
STUDY OBJECTIVE To assess the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in patients with allergic bronchopulmonary aspergillosis (ABPA). DESIGN Case-control study. All subjects in the study were screened for the presence of 13 mutations in the CFTR gene (R117H, 621 + 1G(-)>T, R334 W, Delta F508, Delta I507, 1717-1G(-)>A, G542X, R553X, G551D, R1162X, 3849 + 10kbC(-)>T, W1282X, and N1303K). Moreover, they were also screened for the presence of the 5T… 

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References

SHOWING 1-10 OF 47 REFERENCES

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Results indicate that CFTR gene mutations, and perhaps also DNA polymorphisms, may be involved in the etiopathogenesis of at least some cases of bronchiectasis.

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.

Analysis of the clinical presentation of the five patients with CF and the 12 patients with atypical CF carrying the 5T allele indicated that most patients suffered from respiratory disease presenting as asthma like symptoms, nasal polyposis, chronic sinusitis, chronic bronchitis, or bronchiectasis.

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

A point mutation in intron 19 of CFTR and abnormal epithelial function in patients who have cystic fibrosis-like lung disease but normal sweat chloride values is identified, indicating that this syndrome is a form of cystic Fibrosis.

Protection against bronchial asthma by CFTR ΔF508 mutation: A heterozygote advantage in cystic fibrosis

Evidence is presented that the ΔF508 CF allele protects against asthma in childhood and early adult life, and may also protect heterozygotes against bronchial asthma.

A cystic fibrosis mutation associated with mild lung disease.

Because mortality in this disease depends primarily on the progression of pulmonary disease, patients with the A455E mutation have a better prognosis than patients who are homozygous for the delta F508 mutation.

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD.

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Results suggest that this form of truncated CFTR protein, still containing the regulatory region, the first ATP binding domain, and both transmembrane domains, could be partially working in the lung tissues.